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complement component C1s deficiency

Disease Summary
Associated Targets (1)
Tclin

1


Mondo Description A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.
Uniprot Description A rare defect resulting in C1 deficiency and impaired activation of the complement classical pathway. C1 deficiency generally leads to severe immune complex disease with features of systemic lupus erythematosus and glomerulonephritis.
Mondo Term and Equivalent IDs
MONDO:0013419:  complement component C1s deficiency
MESH:C565170: 
UMLS:C3151078: